@prefix this: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix ncit: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix dcterms: . @prefix np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP1305679.RAsidMBVtVUG0TPpGLZPfOg_QPNm7y3dtD9t-ftpRxOuA130_head { this: np:hasAssertion dgn-np:NP1305679.RAsidMBVtVUG0TPpGLZPfOg_QPNm7y3dtD9t-ftpRxOuA130_assertion; np:hasProvenance dgn-np:NP1305679.RAsidMBVtVUG0TPpGLZPfOg_QPNm7y3dtD9t-ftpRxOuA130_provenance; np:hasPublicationInfo dgn-np:NP1305679.RAsidMBVtVUG0TPpGLZPfOg_QPNm7y3dtD9t-ftpRxOuA130_publicationInfo; a np:Nanopublication . dgn-np:NP1305679.RAsidMBVtVUG0TPpGLZPfOg_QPNm7y3dtD9t-ftpRxOuA130_assertion a np:Assertion . dgn-np:NP1305679.RAsidMBVtVUG0TPpGLZPfOg_QPNm7y3dtD9t-ftpRxOuA130_provenance a np:Provenance . dgn-np:NP1305679.RAsidMBVtVUG0TPpGLZPfOg_QPNm7y3dtD9t-ftpRxOuA130_publicationInfo a np:PublicationInfo . } dgn-np:NP1305679.RAsidMBVtVUG0TPpGLZPfOg_QPNm7y3dtD9t-ftpRxOuA130_assertion { miriam-gene:3949 a ncit:C16612 . lld:C0020445 a ncit:C7057 . dgn-gda:DGN6cc33cef30f531b1876e22ded5198368 sio:SIO_000628 miriam-gene:3949, lld:C0020445; a sio:SIO_001121 . } dgn-np:NP1305679.RAsidMBVtVUG0TPpGLZPfOg_QPNm7y3dtD9t-ftpRxOuA130_provenance { dgn-np:NP1305679.RAsidMBVtVUG0TPpGLZPfOg_QPNm7y3dtD9t-ftpRxOuA130_assertion dcterms:description "[As expected, the gene for the LDL receptor (LDLR) is located on the same chromosome as the gene for the disease familial hypercholesterolemia, which has been previously mapped to chromosome 19 by pedigree studies and is caused by allelic mutations at the LDL receptor locus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en; wi:evidence dgn-void:source_evidence_literature; sio:SIO_000772 miriam-pubmed:6326146; prov:wasDerivedFrom dgn-void:befree-2016; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-2016 pav:importedOn "2016-02-19"^^xsd:date . dgn-void:source_evidence_literature a eco:ECO_0000212; rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en; rdfs:label "DisGeNET evidence - LITERATURE"@en . } dgn-np:NP1305679.RAsidMBVtVUG0TPpGLZPfOg_QPNm7y3dtD9t-ftpRxOuA130_publicationInfo { this: dcterms:created "2016-05-13T12:51:37+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetv3.0rdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v4.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v4.0.0" . }